/microphthalmia with brain and digit anomalies

microphthalmia with brain and digit anomalies

Rare Disease

MONDO:0011936

Also Known As

Bakrania-Ragge syndromeMCOPS6microphthalmia with brain and digit anomaliesmicrophthalmia, syndromic type 6syndromic microphthalmia type 6anophthalmia clinical with micrognathia malformed ears digital anomalies and abnormal external genitaliaanophthalmia, clinical, with micrognathia, malformed ears, digital anomalies, and abnormal external genitaliamicrophthalmia and pituitary anomaliesmicrophthalmia syndromic 6microphthalmia with brain and digit developmental anomaliesmicrophthalmia, syndromic 6

Definition

Microphthalmia with brain and digit anomalies is characterized by anophthalmia or microphthalmia, retinal dystrophy, and/or myopia, associated in some cases with cerebral anomalies. It has been described in two families. Polydactyly may also be present. Linkage analysis allowed identification of mutations in the BMP4 gene, which has already been shown to play a role in eye development.